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dbVar

Database of genomic structural variation

nsv5980434

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:990

Description:NC_000007.13:g.(?_66103230)_(66104219_?)dup AND Progressive myoclonic epilepsy type 3

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 112 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):66,638,243-66,639,232

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5980434	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	66,638,243	66,639,232
nsv5980434	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	66,103,230	66,104,219

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17517485	duplication	Multiple	Multiple	EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants	Likely benign	ClinVar	RCV001488312.3, VCV001148456.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17517485	Remapped	Perfect	NC_000007.14:g.(?_ 66638243)_(6663923 2_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	66,638,243	66,639,232
nssv17517485	Submitted genomic		NC_000007.13:g.(?_ 66103230)_(6610421 9_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	66,103,230	66,104,219

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17517485	GRCh37: NC_000007.13:g.(?_66103230)_(66104219_?)dup	duplication	germline	EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants	Likely benign	ClinVar	RCV001488312.3, VCV001148456.3

No genotype data were submitted for this variant

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